Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “ACROCEPHALOSYNDACTYLIA”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 217 records · Page 12Linked to original sources
PubMed1978

Infantile craniosynostosis: clinical, radiological, and surgical considerations based on 100 surgically treated cases.

One hundred children affected by craniosynostosis were operated on from January 1952 to February 1977. Forty-six patients were operated on within the first year of life, and only 9 after six years of age. In 27 cases only one cranial suture was synostotic (mostly the coronal: 15 cases). In 36 cases two sutures were involved (mostly coronal plus sagittal: 25 cases). In 28 cases all the cranial sutures were involved. Also included in this series are seven cases of Crouzon's, one of Apert's, and one of Carpenter's syndromes. The clinical, radiological, and surgical features of this condition are discussed, and the long-term results are reported.

Acrocephalosyndactylia↗
PubMed1990

Magnetic resonance imaging in the malformative syndromes with mental retardation.

We reported on thirteen children affected with malformative syndromes associated with mental retardation. MRI examination showed in all of them different types of anomalies; agenesis of corpus callosum, ventricular dilatation and cerebral matter alterations were the most frequent findings. The authors give a brief description of the clinical reports and of the anomalies observed with MRI; they conclude that MRI seems to be a valuable tool especially for the study of the alterations of the cerebral matter and their correlation with mental retardation.

Abnormalities, Multiple↗
PubMed1989

Three dimensional reconstruction in coronal synostosis: pre and post operative appearances.

Three dimensional computed tomography (CT) is a relatively new method of arranging the elements of CT slices into a morphological image with a multi dimensional appearance. It is of particular use in craniofacial deformities. The following report shows its use in the pre and post operative assessment of frontal skull deformity in three infants with coronal synostosis.

Acrocephalosyndactylia↗
PubMed2000

[Humeral lengthening and deformity correction].

Nine patients with achondroplasia and one patient with Apert syndrome underwent the surgical lengthening of both humerus and simultaneous correction of both associated bone deformity. An unilateral external fixator was applied to the lateral aspect of the humerus with four half-pins and percutaneous predrilling osteotomy was performed at the apex of flexion deformity of the bone. During the waiting period before distraction, the flexion deformity of the distal humerus was corrected using an additional external fixator. Slow gradual distraction was subsequently carried out at a rate of 0. 25 mm every 6 hours. The average lengthening was 8 cm (range 7.5 to 9 cm), the overall treatment time 312 days (range 192 to 406 days), and the average healing index 39.0 days/cm. The average correction of the elbow flexion deformity was 20 degrees. We believe this treatment is useful to improve the function of the arms and the activity of daily living for the patients with bilateral short humeri.

Achondroplasia↗
PubMed2000

[Acrocephalosyndactyly I (Apert syndrome)].

A fourteen years old girl showed the classic signs of acrocephalosyndactyly I: dysostosis craniofacialis with hypertelorism, exophthalmus, strabism, amblyopia and cleft palate as well as syndactyly of the fingers and toes. The feet showed on both side a 6 cm long horny band. Since the twelfth year of life, she had suffered from papulo-pustular acne with many comedomes. Her menstruation started one year later. Intellectual development was normal. At time of her birth, her father was 54 years old, and her mother 36 years old. Two elder siblings are healthy. The inheritance of acrocephalosyndactyly I is usually autosomal dominant, but sporadic cases are frequent.

Acne Vulgaris↗
PubMed2002

The pattern of skeletal anomalies in the cervical spine, hands and feet in patients with Saethre-Chotzen syndrome and Muenke-type mutation.

BACKGROUND: Saethre-Chotzen syndrome (SCS) and Muenke-type mutation (MTM) are complex syndromes with craniosynostosis and skeletal anomalies including syndactyly, carpal and tarsal fusions, and cervical spine abnormalities. OBJECTIVE: In this study, we analysed radiographs of the cervical spine, hands and feet of a large patient population with genetically proven SCS and MTM. The aim was to describe the pattern of skeletal anomalies and to determine whether specific features are present that could help differentiate between the two entities. MATERIALS AND METHODS: Radiographs of 43 patients (23 males, 20 females) with SCS (n=35) or MTM (n=8) were evaluated. The median age was 8 years (range 1 month-36 years). All radiographs were reviewed by two radiologists. RESULTS: In the hands and feet, a variety of anomalies such as brachyphalangy, clinodactyly, partial syndactyly, partial carpal or tarsal fusion, and cone-shaped epiphyses were noted. Duplicated distal phalanx of the hallux (n=12/35) and triangular deformity of the epiphysis of the distal phalanx of the hallux (n=10/35) were detected in SCS only; calcaneo-cuboid fusion (n=2/35) was detected in MTM only. In the cervical spine, fusion of vertebral bodies and/or the posterior elements occurred only in patients with SCS. CONCLUSIONS: Pathognomonic signs for SCS are the triangular shape of the epiphysis and duplicated distal phalanx of the hallux. Calcaneo-cuboid fusion was detected in MTM only. These signs may be helpful in the differentiation of SCS from MTM.

Acrocephalosyndactylia↗
PubMed2000

A variant of Reinhardt-Pfeiffer mesomelic skeletal dysplasia.

Mesomelic bone dysplasias are characterised by disproportionate shortness of the middle segment of the extremities and short stature. Various patterns of this dysplasia have been described in the literature. The type involving mainly the ulna and fibula was described by Reinhardt and Pfeiffer as the ulno-fibular mesomelic dysplasia affecting the distal ulna and proximal fibula. Involvement of the distal fibula in mesomelic dysplasia has not been described to our knowledge. We report here a case of mesomelic dysplasia affecting mainly the distal fibula and distal ulna, with severe ankle deformity requiring surgical correction.

Acrocephalosyndactylia↗
PubMed2003

Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening.

The majority of patients with Saethre-Chotzen syndrome have mutations in the TWIST gene, which codes for a basic helix-loop-helix transcription factor. Of the genetic alterations identified in TWIST, nonsense mutations, frameshifts secondary to small deletions or insertions, and large deletions implicate haploinsufficiency as the pathogenic mechanism. We identified three novel intragenic mutations and six deletions in our patients by using a new strategy to screen for TWIST mutations. We used polymerase chain reaction (PCR) amplification with subsequent sequencing to identify point mutations and small insertions or deletions in the coding region, and real-time PCR-based gene dosage analysis to identify large deletions encompassing the gene, with confirmation by microsatellite and fluorescence in situ hybridization (FISH) analyses. The size of the deletions can also be analyzed by using the gene dosage assay with "PCR walking" across the critical region. In 55 patients with features of Saethre-Chotzen syndrome, 11% were detected to have deletions by real-time gene dosage analysis. Two patients had a translocation or inversion at least 260 kb 3' of the gene, suggesting they had position-effect mutations. Of the 37 patients with classic features of Saethre-Chotzen syndrome, the overall detection rate for TWIST mutations was 68%. The risk for developmental delay in patients with deletions involving the TWIST gene is approximately 90% or eight times more common than in patients with intragenic mutations.

Acrocephalosyndactylia↗
PubMed1996

Possible genetic heterogeneity in the Saethre-Chotzen syndrome.

Saethre-Chotzen syndrome is an autosomal dominant acrocephalosyndactyly syndrome whose gene has been assigned to chromosome 7p. Cytogenetic and linkage analyses have enabled the interval encompassing the disease gene to be delimited to a short region of chromosome 7p15.3-p21.2. Based on the genetic analysis of three unreported families, we confirm the location of the disease gene(s) in the interval defined by loci D7S664 and D7S493 (Zmax = 4.78 at [symbol: see text] = 0 at the D7S488 locus) but fail to decide whether one or more disease-causing genes map in this genetic interval.

Acrocephalosyndactylia↗
PubMed1997

Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome.

Pfeiffer syndrome is a skeletal disorder characterized by craniosynostosis associated with foot and hand anomalies. Mutations in the genes encoding fibroblast growth factor receptors 1 and 2 (FGFR1 and FGFR2) have recently been implicated in the aetiology of such a syndrome, as well as of other craniosynostotic conditions. We now report a novel missense mutation, a G to C transversion at position 1049 (exon IIIa) of FGFR2, detected in a patient with severe Pfeiffer clinical features. The mutation results in the substitution of a cysteine for tryptophan-290 in the third immunoglobulin-like domain and affects both spliceoforms of FGFR2. Mutations causing replacement of tryptophan-290 have also been reported previously in Crouzon syndrome, a similar but clinically distinct craniosynostotic disorder. This finding confirms the involvement of mutations of FGFR2 exon IIIa in Pfeiffer syndrome, and emphasizes both the extensive heterogeneity of the FGFR2 mutations that result in the Pfeiffer phenotype and the perturbations caused by unpaired cysteine residues in receptor dimerization and transduction of the FGFs signal.

Acrocephalosyndactylia↗
PubMed1997

Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders.

Jackson-Weiss syndrome is a rare skeletal disorder characterized by craniosynostosis associated with foot malformations. This condition is inherited as an autosomal dominant trait with complete penetrance and wide phenotypic heterogeneity. Mutations in the fibroblast growth factor receptor 2 (FGFR2) gene have been recently identified as causes of this syndrome and of at least four other craniosynostotic disorders, namely the Apert, Beare-Stevenson cutis gyrata, Crouzon and Pfeiffer syndromes. We report two novel FGFR2 missense mutations associated with phenotypes consistent with Jackson-Weiss syndrome. Both nucleotide changes predict a serine for cysteine-342 substitution in the second half of the third immunoglobulin-like domain. The replacement of Cys342 with arginine has previously been reported in one of the three Jackson-Weiss cases investigated. Interestingly, both Cys342Ser and Cys342Arg substitutions have been found to be associated with the Crouzon and Pfeiffer phenotypes; a phenotypic heterogeneity, Crouzon vs Jackson-Weiss clinical features, has been also observed for Gln289Pro and Ala344Gly amino-acid changes. This finding indicates the genetic homogeneity of the "heterogeneous" Jackson-Weiss phenotype and a common molecular basis for these apparently "clinically distinct" craniosynostotic disorders.

Acrocephalosyndactylia↗
PubMed1999

Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome.

Pfeiffer syndrome (PS) is one of the classical craniosynostosis syndromes correlated with specific mutations in the human fibroblast growth factor receptor (FGFR) genes, FGFR1 and FGFR2. In this study, we set out to examine the exons in FGFR2 most commonly associated with mutations in PS, exons IIIa and IIIc, in a panel of 78 unrelated individuals with PS by the most sensitive method (direct DNA sequencing). We have identified a total of 18 different mutations among 40 patients; eight of these mutations have not been previously described. The mutational spectrum displays a non-random character with the frequent involvement of cysteine codons.

Acrocephalosyndactylia↗
PubMed1999

Differential in vitro phenotype pattern, transforming growth factor-beta(1) activity and mRNA expression of transforming growth factor-beta(1) in Apert osteoblasts.

The phenotype of Apert osteoblasts differs from that of normal osteoblasts in the accumulation of macromolecules in the extracellular matrix. Apert osteoblasts increase type I collagen, fibronectin and glycosaminoglycans secretion compared with normal osteoblasts. Because the extracellular matrix macromolecule accumulation is greatly modulated by transforming growth factor-beta(1), we examined the ability of normal and Apert osteoblasts to secrete transforming growth factor-beta(1) by CCL-64 assay and to produce transforming growth factor-beta(1 )by analysis of the mRNA expression of transforming growth factor-beta(1). Northern blot analysis revealed an increased amount of transforming growth factor-beta(1) mRNA expression in Apert osteoblasts compared with normal ones. Moreover, the level of the active transforming growth factor-beta(1) isoform was higher in Apert than in normal media. In pathologic cells, the increase in transforming growth factor-beta(1) gene expression was associated with a parallel increase in the factor secreted into the medium. The level of transforming growth factor-beta(1) was decreased by the addition of basic fibroblast growth factor. Transforming growth factor-beta(1) is controlled temporally and spatially during skeletal tissue development and produces complex stimulatory and inhibitory changes in osteoblast functions. We hypothesise that in vitro differences between normal and Apert osteoblasts may be correlated to different transforming growth factor-beta(1) cascade patterns, probably due to an altered balance between transforming growth factor-beta(1) and basic fibroblast growth factor.

Acrocephalosyndactylia↗